A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647529



Internal ID6687584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29283431..29285907hg38UCSC Ensembl
Innerchr22:29283448..29285891hg38UCSC Ensembl
Outerchr22:29283415..29285924hg38UCSC Ensembl
chr22:29679420..29681896hg19UCSC Ensembl
Innerchr22:29679437..29681880hg19UCSC Ensembl
Outerchr22:29679404..29681913hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382477
hg192477
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16398867, essv16398873, essv16398887, essv16398882, essv16398862, essv16398841, essv16398782, essv16398829, essv16398843, essv16398822, essv16398891, essv16398878, essv16398890, essv16398837, essv16398827, essv16398832, essv16398855, essv16398820, essv16398894, essv16398851, essv16398803, essv16398785, essv16398847, essv16398875, essv16398886, essv16398842, essv16398896, essv16398784, essv16398874, essv16398892, essv16398881, essv16398852, essv16398795, essv16398780, essv16398796, essv16398857, essv16398812, essv16398898, essv16398883, essv16398858, essv16398779, essv16398791, essv16398879, essv16398819, essv16398815, essv16398859, essv16398864, essv16398786, essv16398806, essv16398861, essv16398781, essv16398777, essv16398872, essv16398798, essv16398808, essv16398869, essv16398853, essv16398810, essv16398802, essv16398811, essv16398885, essv16398807, essv16398845, essv16398778, essv16398804, essv16398809, essv16398801, essv16398880, essv16398888, essv16398846, essv16398823, essv16398830, essv16398774, essv16398797, essv16398772, essv16398849, essv16398789, essv16398848, essv16398897, essv16398840, essv16398790, essv16398773, essv16398828, essv16398813, essv16398833, essv16398850, essv16398788, essv16398783, essv16398817, essv16398839, essv16398844, essv16398835, essv16398824, essv16398826, essv16398854, essv16398893, essv16398836, essv16398870, essv16398792, essv16398776, essv16398831, essv16398814, essv16398876, essv16398865, essv16398884, essv16398799, essv16398889, essv16398794, essv16398775, essv16398834, essv16398871, essv16398825, essv16398895, essv16398877, essv16398868, essv16398800, essv16398856, essv16398838, essv16398866, essv16398818, essv16398787, essv16398793, essv16398860, essv16398899, essv16398805, essv16398771, essv16398863, essv16398816, essv16398821
SamplesHG02879, HG02890, HG02808, NA19312, HG03160, HG03058, HG03121, NA19030, HG00734, HG02882, HG03354, HG03567, HG02330, HG03382, NA18871, NA19437, HG03342, NA19114, HG02983, HG03410, HG03055, HG03129, HG01885, HG03196, HG03247, NA19455, HG02450, HG03301, NA19430, HG03057, NA18516, HG02014, HG02952, HG01956, HG03212, NA18517, HG03571, HG03311, NA19019, HG03432, HG02497, HG03099, NA19320, HG02760, HG03548, HG02323, HG03394, NA18505, HG03039, HG02805, NA19147, HG03457, HG03049, NA18868, HG02308, HG02585, HG03162, HG02588, HG03470, HG03575, HG02009, NA19917, HG02716, HG03559, HG01965, HG03130, NA18916, HG02595, HG03114, NA19316, NA19324, NA19190, HG02941, NA19247, HG02814, HG03190, NA19129, HG03391, NA19374, HG02562, HG03455, NA18510, HG02439, NA19901, HG01170, HG03097, NA18504, NA19175, NA18858, HG03072, HG03157, NA19159, NA19328, HG02536, HG02582, HG02624, HG03385, NA19235, HG02947, HG03224, NA19201, HG03045, HG03246, HG03061, HG02953, HG03267, HG03556, HG03123, HG03476, HG02589, NA18917, HG02464, HG03369, HG02476, HG03270, NA19095, HG03557, HG03271, HG02798, HG01890, HG02095, HG02820, HG03460, HG03095, NA19922, NA19439, HG02282, HG02610, HG03082
Known GenesEWSR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647529
Frequency
Sample Size2504
Observed Gain0
Observed Loss129
Observed Complex0
Frequencyn/a


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